Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants

Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants

Background. The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype. DSD incidence is reported as 2 in 10,000 births, and the etiology has been attributed t...

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Bibliographic Details
Main Authors: Katia Margiotti, Francesco Libotte, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2024/4896940
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